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Reference Based Genome Compression

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 Added by Idoia Ochoa
 Publication date 2012
and research's language is English




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DNA sequencing technology has advanced to a point where storage is becoming the central bottleneck in the acquisition and mining of more data. Large amounts of data are vital for genomics research, and generic compression tools, while viable, cannot offer the same savings as approaches tuned to inherent biological properties. We propose an algorithm to compress a target genome given a known reference genome. The proposed algorithm first generates a mapping from the reference to the target genome, and then compresses this mapping with an entropy coder. As an illustration of the performance: applying our algorithm to James Watsons genome with hg18 as a reference, we are able to reduce the 2991 megabyte (MB) genome down to 6.99 MB, while Gzip compresses it to 834.8 MB.



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Being able to store and transmit human genome sequences is an important part in genomic research and industrial applications. The complete human genome has 3.1 billion base pairs (haploid), and storing the entire genome naively takes about 3 GB, which is infeasible for large scale usage. However, human genomes are highly redundant. Any given individuals genome would differ from another individuals genome by less than 1%. There are tools like DNAZip, which express a given genome sequence by only noting down the differences between the given sequence and a reference genome sequence. This allows losslessly compressing the given genome to ~ 4 MB in size. In this work, we demonstrate additional improvements on top of the DNAZip library, where we show an additional ~ 11% compression on top of DNAZips already impressive results. This would allow further savings in disk space and network costs for transmitting human genome sequences.
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